Thalassemia

Topic Contents

Thalassemia

Topic Overview

What is thalassemia?

Thalassemia (say
"thal-uh-SEE-mee-uh") is an inherited blood disorder that causes your body to
make less
hemoglobin or abnormal hemoglobin.
Hemoglobin helps red blood cells
spread oxygen through
your body. Low levels of hemoglobin may cause
anemia, an illness that makes you feel weak and tired.
Severe anemia can damage organs and lead to death.

What are the types of thalassemia?

There are two main types:
alpha and beta. Beta thalassemia is the most common.

Beta thalassemia

You need both alpha- and
beta-globin to make hemoglobin. Beta thalassemia occurs when one or both of the
two genes that make beta-globin don't work or only partly work as they should.

If you have one damaged gene, you
may have mild anemia and probably won't need treatment. This is
called beta thalassemia minor or beta thalassemia trait. It happens when you get a normal gene from one
parent and a thalassemia gene from the other.

When both
genes are damaged, it means you got a thalassemia gene from each
parent. You may have moderate or severe anemia.

If you have moderate anemia (beta thalassemia intermedia), you may need
blood transfusions.

People with severe anemia (called
beta thalassemia major or Cooley's anemia) need blood transfusions throughout life. Symptoms
of anemia usually begin within a few months after birth.

Alpha thalassemia

This type occurs when
one or more of the four alpha-globin genes that make hemoglobin are missing or
damaged.

If one gene is missing or damaged: Your red blood cells might be smaller than normal. You will have no symptoms and you will not
need treatment. But you are a silent carrier. This means
you don't have the disease but can pass the defective gene to your child.

If two genes are missing or damaged: You will have very mild
anemia that will typically not need treatment. This is called
alpha thalassemia minor or alpha thalassemia trait.

If three genes are missing: You will have mild to moderately severe
anemia. This is sometimes called hemoglobin H disease.
If it is severe, you may need blood transfusions.

If all four genes are missing: This is called alpha thalassemia major or hydrops fetalis. The fetus will be stillborn, or the
child will die soon after birth.

What causes thalassemia?

If you, either parent, or any of your siblings have thalassemia or carry a gene for thalassemia and you're thinking about
having a child, you may want to talk to a
genetic counselor before you get pregnant. A genetic counselor can tell you
how likely it is that your child will have the disease and how severe it might
be.

What are the symptoms?

Mild thalassemia usually
doesn't cause any symptoms.

Moderate or severe
disease may cause symptoms of anemia. For example, you may feel weak, tire out more easily, and feel short of breath. Other symptoms also can occur depending on how severe your disease is and what problems it causes.

Children with severe thalassemia may grow slowly (
failure to thrive ), have skull bones that are not shaped normally, and have problems with feeding, frequent fevers, and diarrhea.

How is thalassemia diagnosed?

Your doctor will do an exam and ask about your health history. Tests
you may need include:

A blood test that
measures the amounts of different types of hemoglobin, to help find out which
type of thalassemia you have.

If you learn that you have thalassemia, your family members should to talk to their doctors about testing.

How is it treated?

Treatment depends on how severe your condition is.

Most large medical centers have treatment centers for blood disorders. They are an excellent resource to help you and your family get the best care.

Mild thalassemia, the most common form, does
not need treatment.

Moderate thalassemia may be treated with
blood transfusions and
folic acid supplements. Folic acid is a vitamin that your body needs to produce red blood cells.

Severe thalassemia may
be treated with:

Blood transfusions.

Folic
acid.

If you have repeated blood transfusions, it's possible
for your body to get too much iron. This can
damage your organs, especially the liver. Make sure to avoid vitamins that contain iron, and don't take extra vitamin C, which can increase how much iron you absorb from food. If you have too much
iron, your doctor may give you
chelation therapy. This is a medicine that helps remove iron from your body.

Get a flu vaccine each year. Also talk to your
doctor about getting a pneumococcal vaccine. These vaccines may protect you from severe
infections, which can make
anemia worse and cause severe illness in people who have thalassemia.

The Centers for Disease Control and Prevention (CDC) helps promote and improve the health of people with certain blood disorders. The CDC promotes research, provides education to patients and health professionals, and promotes prevention programs.

Cooley's Anemia Foundation

330 Seventh Avenue

Suite 900

New York, NY 10001

Phone:

1-800-522-7222

Fax:

(212) 279-5999

Email:

info@cooleysanemia.org

Web Address:

www.cooleysanemia.org

Cooley's Anemia Foundation is a nonprofit organization dedicated to
serving people afflicted with various forms of thalassemia, most notably the
major form of this genetic blood disease, Cooley's anemia (thalassemia major).
The foundation's mission is to advance the treatment and cure for thalassemia,
enhance the quality of life of people who have it, and educate the medical
profession, trait carriers, and the public about this fatal blood disease. The
foundation encourages donations of blood, since thalassemia patients are the
single largest users of blood supplies in the nation, and also sponsors
chapters and support groups.

Iron Disorders Institute

P.O. Box 675

Taylors, SC 29687

Phone:

1-888-565-IRON (1-888-565-4766) (864) 292-1175

Fax:

(864) 292-1878

Email:

patientservices@irondisorders.org

Web Address:

www.irondisorders.org

The Iron Disorders Institute is a national voluntary
health agency that provides information about iron disorders such as
hemochromatosis, acquired iron overload, sickle cell anemia, thalassemia, iron
deficiency anemia, and anemia of chronic disease. The organization works with a
scientific review board as well as various medical professional groups. A free
newsletter, idInsight, is available.

National Heart, Lung, and Blood Institute
(NHLBI)

P.O. Box 30105

Bethesda, MD 20824-0105

Phone:

(301) 592-8573

Fax:

(240) 629-3246

TDD:

(240) 629-3255

Email:

nhlbiinfo@nhlbi.nih.gov

Web Address:

www.nhlbi.nih.gov

The U.S. National Heart, Lung, and Blood Institute
(NHLBI) information center offers information and publications about preventing
and treating:

Diseases that affect the blood, such as anemia,
hemochromatosis, hemophilia, thalassemia, and von Willebrand disease.

National Human Genome Research Institute, National
Institutes of Health (NIH)

NIH Building 31, Room 4B09, 31 Center Drive

MSC 2152, 9000 Rockville Pike

Bethesda, MD 20892-2152

Phone:

Phone: (301) 402-0911

Fax:

(301) 402-2218

Web Address:

www.genome.gov

The National Human Genome Research Institute (NHGRI) supports
genetic and genomic research, investigation into the ethical, legal, and social
implications surrounding genetics research, and educational outreach
activities. (Genome refers to a complete gene sequence in a organism.) NHGRI
also supports the training of investigators and provides genome information,
including fact sheets and school materials, to the public and to health
professionals.

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